98 results found
    1. Neuroscience

    Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy

    Achira Roy et al.
    Acute one-hour treatment of Pik3ca mutant mice with a novel anti-epilepsy drug suppresses seizures despite continued developmental brain dysmorphology, promising a new therapeutic strategy for patients with intractable pediatric epilepsy.
    1. Neuroscience

    PI3K-Yap activity drives cortical gyrification and hydrocephalus in mice

    Achira Roy et al.
    Embryonic PI3K-Yap activity regulates apical adhesion and proliferation of neural progenitors lining the lateral ventricular surface, to maintain the smooth, non-folded mouse brain and to prevent developmental hydrocephalus.
    1. Cell Biology
    2. Cancer Biology

    miR-142 regulates the tumorigenicity of human breast cancer stem cells through the canonical WNT signaling pathway

    Taichi Isobe et al.
    Insights into the roles and mechanisms of two of the miRNAs upregulated in human breast cancer stem cells in at least some breast cancers are presented.
    1. Neuroscience
    2. Stem Cells and Regenerative Medicine

    mTOR signaling regulates the morphology and migration of outer radial glia in developing human cortex

    Madeline G Andrews et al.
    mTOR signaling regulates the morphology of a human-enriched neural stem cell population and thus contributes to the radial architecture of the developing human cortex with implications for neurodevelopmental disease.
    1. Neuroscience

    Live calcium and mitochondrial imaging in the enteric nervous system of Parkinson patients and controls

    An-Sofie Desmet et al.
    In contrast to previous post-mortem or fixed tissue histochemical reports, live calcium and mitochondrial imaging data suggest that the enteric nervous system is not generally affected in Parkinson's disease patients.
    1. Cancer Biology

    miR-34a is a microRNA safeguard for Citrobacter-induced inflammatory colon oncogenesis

    Lihua Wang et al.
    miR-34a prevents inflammation-induced colonic regeneration from oncogenesis by simultaneously targeting processes in both immune and epithelial cells, including T helper 17 cell differentiation, recruitment, and IL-17 induced epithelial proliferation.
    1. Cell Biology
    2. Developmental Biology

    LUZP1, a novel regulator of primary cilia and the actin cytoskeleton, is a contributing factor in Townes-Brocks Syndrome

    Laura Bozal-Basterra et al.
    LUZP1 is required for proper cilia and cytoskeleton formation.
    1. Neuroscience

    Maternal cortisol is associated with neonatal amygdala microstructure and connectivity in a sexually dimorphic manner

    David Q Stoye et al.
    Prenatal stress is transmitted to infant development through cortisol, which imparts sex-specific effects on the development and connectivity of the amygdalae.
    1. Genetics and Genomics
    2. Medicine

    Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system

    Gillian Morven Belbin et al.
    A health-system embedding method for genomic discovery and clinical characterization of disease highlights the importance of documenting a wider spectrum of genetic disorders in diverse populations.
    1. Cancer Biology
    2. Neuroscience

    Autophagy linked FYVE (Alfy/WDFY3) is required for establishing neuronal connectivity in the mammalian brain

    Joanna M Dragich et al.
    Loss of function of the selective autophagy adaptor protein Alfy/Wdfy3 leads to profound wiring defects from the forebrain through to the spinal cord, highlighting the growing importance for macroautophagy in the developing brain.

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